Variant report

Variant	nsv1053434
Chromosome Location	chr9:98248328-98259178
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr9:98256524-98257090	GM12878	blood:	n/a	n/a
2	BCL11A	chr9:98256606-98257017	GM12878	blood:	n/a	chr9:98256909-98256918
3	BCLAF1	chr9:98256450-98257127	GM12878	blood:	n/a	chr9:98256909-98256918
4	BHLHE40	chr9:98256264-98257261	GM12878	blood:	n/a	chr9:98256470-98256486 chr9:98256459-98256475
5	CCNT2	chr9:98256317-98256515	K562	blood:	n/a	chr9:98256458-98256467 chr9:98256488-98256508
6	CEBPB	chr9:98256957-98257329	K562	blood:	n/a	chr9:98257137-98257150 chr9:98257137-98257148 chr9:98257139-98257150
7	CEBPB	chr9:98256955-98257282	K562	blood:	n/a	chr9:98257137-98257150 chr9:98257137-98257148 chr9:98257139-98257150
8	CEBPB	chr9:98257010-98257210	HepG2	liver:	n/a	chr9:98257137-98257150 chr9:98257137-98257148 chr9:98257139-98257150
9	CEBPB	chr9:98257084-98257514	H1-hESC	embryonic stem cell:	n/a	chr9:98257137-98257150 chr9:98257137-98257148 chr9:98257139-98257150
10	CEBPB	chr9:98257009-98257320	IMR90	lung:	n/a	chr9:98257137-98257150 chr9:98257137-98257148 chr9:98257139-98257150
11	CEBPB	chr9:98257057-98257283	Hela-S3	cervix:	n/a	chr9:98257137-98257150 chr9:98257137-98257148 chr9:98257139-98257150
12	CEBPB	chr9:98257019-98257210	A549	lung:	n/a	chr9:98257137-98257150 chr9:98257137-98257148 chr9:98257139-98257150
13	CHD1	chr9:98256648-98257174	GM12878	blood:	n/a	n/a
14	CHD2	chr9:98257241-98257400	GM12878	blood:	n/a	n/a
15	CHD2	chr9:98256735-98256996	GM12878	blood:	n/a	n/a
16	CREB1	chr9:98256435-98257321	GM12878	blood:	n/a	n/a
17	CTCF	chr9:98256240-98256390	WERI-Rb-1	eye:	n/a	n/a
18	CTCF	chr9:98254280-98254430	Caco-2	colon:	n/a	n/a
19	CTCF	chr9:98253500-98253650	GM12870	blood:	n/a	n/a
20	CTCF	chr9:98254287-98254355	K562	blood:	n/a	n/a
21	CTCF	chr9:98254184-98254462	GM12878	blood:	n/a	n/a
22	CTCF	chr9:98254341-98254375	MCF-7	breast:	n/a	n/a
23	CTCF	chr9:98254320-98254398	GM19240	blood:	n/a	n/a
24	CTCF	chr9:98256753-98257062	GM12878	blood:	n/a	chr9:98256973-98256986
25	CTCF	chr9:98256300-98256450	SK-N-SH_RA	brain:	n/a	n/a
26	CTCF	chr9:98254280-98254430	GM12871	blood:	n/a	n/a
27	CTCF	chr9:98254300-98254602	K562	blood:	n/a	n/a
28	CTCF	chr9:98253640-98253790	HEK293	kidney:	n/a	n/a
29	CUX1	chr9:98256817-98257161	GM12878	blood:	n/a	n/a
30	E2F6	chr9:98256842-98257011	K562	blood:	n/a	n/a
31	EBF1	chr9:98256673-98257144	GM12878	blood:	n/a	n/a
32	EBF1	chr9:98256309-98257027	GM12878	blood:	n/a	n/a
33	ELF1	chr9:98256751-98256994	K562	blood:	n/a	chr9:98256905-98256918
34	ELF1	chr9:98256756-98257020	K562	blood:	n/a	chr9:98256905-98256918
35	ELF1	chr9:98256220-98257173	GM12878	blood:	n/a	chr9:98256905-98256918
36	ELF1	chr9:98256526-98257238	GM12878	blood:	n/a	chr9:98256905-98256918
37	ELK1	chr9:98256541-98257027	GM12878	blood:	n/a	n/a
38	EP300	chr9:98256330-98256704	SK-N-SH_RA	brain:	n/a	chr9:98256612-98256628 chr9:98256460-98256476
39	EP300	chr9:98256632-98257078	GM12878	blood:	n/a	chr9:98256973-98256989 chr9:98257057-98257071
40	EP300	chr9:98256694-98257084	GM12878	blood:	n/a	chr9:98256973-98256989 chr9:98257057-98257071
41	ETS1	chr9:98256547-98257108	GM12878	blood:	n/a	chr9:98256753-98256766 chr9:98256909-98256923 chr9:98256908-98256921 chr9:98256909-98256920
42	ETS1	chr9:98256560-98257005	GM12878	blood:	n/a	chr9:98256753-98256766 chr9:98256909-98256923 chr9:98256908-98256921 chr9:98256909-98256920
43	FOXA1	chr9:98248358-98248821	T-47D	breast:	n/a	chr9:98248565-98248580
44	FOXA1	chr9:98248374-98248851	T-47D	breast:	n/a	chr9:98248565-98248580
45	FOXM1	chr9:98256601-98257126	GM12878	blood:	n/a	n/a
46	GATA2	chr9:98256272-98256788	SH-SY5Y	brain:	n/a	chr9:98256490-98256499 chr9:98256491-98256508
47	GATA3	chr9:98248367-98248947	T-47D	breast:	n/a	chr9:98248822-98248829
48	GATA3	chr9:98248336-98248959	T-47D	breast:	n/a	chr9:98248822-98248829
49	GATA3	chr9:98248351-98248687	MCF-7	breast:	n/a	n/a
50	GATA3	chr9:98248445-98248969	MCF-7	breast:	n/a	chr9:98248822-98248829

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:98249189-98249239	RPTEC	kidney:	n/a
2	chr9:98249189-98249239	GM12878	blood:	n/a
3	chr9:98249189-98249239	AG04450	lung:	fetal
4	chr9:98249189-98249239	ProgFib	skin:	n/a
5	chr9:98249189-98249239	SAEC	small airway:	n/a
6	chr9:98249189-98249239	GM06990	blood:	n/a
7	chr9:98249189-98249239	NB4	blood:	n/a
8	chr9:98249189-98249239	SK-N-SH	brain:	n/a
9	chr9:98249189-98249239	HCPEpiC	choroid plexus:	n/a
10	chr9:98249189-98249239	HepG2	liver:	n/a
11	chr9:98249189-98249239	HIPEpiC	eye:	n/a
12	chr9:98249189-98249239	HUVEC	blood vessel:	n/a
13	chr9:98249189-98249239	HCM	heart:	n/a
14	chr9:98249189-98249239	U87	brain:	n/a
15	chr9:98249189-98249239	Caco-2	colon:	n/a
16	chr9:98249189-98249239	HPAEpiC	pulmonary alveolar:	n/a
17	chr9:98249189-98249239	GM12891	blood:	n/a
18	chr9:98249189-98249239	NT2-D1	testis:	n/a
19	chr9:98249189-98249239	A549	lung:	n/a
20	chr9:98249189-98249239	HEK293	kidney:	embryo
21	chr9:98249189-98249239	AG09319	gingival:	n/a
22	chr9:98249189-98249239	PrEC	prostate:	n/a
23	chr9:98249189-98249239	GM19239	blood:	n/a
24	chr9:98249189-98249239	SKMC	muscle:	n/a
25	chr9:98249189-98249239	ECC-1	luminal epithelium:	n/a
26	chr9:98249189-98249239	PFSK-1	brain:	n/a
27	chr9:98249189-98249239	HRCEpiC	kidney:	n/a
28	chr9:98249189-98249239	HEEpiC	esophagus:	n/a
29	chr9:98249189-98249239	HAEpiC	amniotic membrane:	n/a
30	chr9:98249189-98249239	Jurkat	blood:	n/a
31	chr9:98249189-98249239	IMR90	lung:	fetal
32	chr9:98249189-98249239	Hela-S3	cervix:	n/a
33	chr9:98249189-98249239	NH-A	brain:	n/a
34	chr9:98249189-98249239	Hepatocyte	liver:	n/a
35	chr9:98249189-98249239	BE2_C	brain:	n/a
36	chr9:98249189-98249239	K562	blood:	n/a
37	chr9:98249189-98249239	MCF10A-Er-Src	breast:	n/a
38	chr9:98249189-98249239	LNCaP	prostate:	n/a
39	chr9:98249189-98249239	NHBE	bronchial:	n/a
40	chr9:98249189-98249239	SK-N-MC	brain:	n/a
41	chr9:98249189-98249239	AG04449	skin:	fetal
42	chr9:98249189-98249239	H1-hESC	embryonic stem cell:	embryo
43	chr9:98249189-98249239	HNPCEpiC	eye:	n/a
44	chr9:98249189-98249239	HCT-116	colon:	n/a
45	chr9:98249189-98249239	T-47D	breast:	n/a
46	chr9:98249189-98249239	MCF-7	breast:	n/a
47	chr9:98249189-98249239	AG09309	skin:	n/a
48	chr9:98249189-98249239	ovcar-3	ovarian:	n/a
49	chr9:98249189-98249239	HL-60	blood:	n/a
50	chr9:98249189-98249239	HCF	heart:	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:98249762..98251725-chr9:98635929..98638685,2	MCF-7	breast:
2	chr9:98146030..98146678-chr9:98247936..98248929,2	MCF-7	breast:
3	chr9:98187019..98190552-chr9:98258756..98262395,5	MCF-7	breast:
4	chr9:98246124..98248586-chr9:98264978..98268110,3	K562	blood:
5	chr9:98187649..98190435-chr9:98252906..98255611,3	MCF-7	breast:
6	chr9:98248561..98250430-chr9:98258742..98261519,2	MCF-7	breast:
7	chr9:98246647..98248663-chr9:98399249..98402157,2	K562	blood:
8	chr9:98182926..98184668-chr9:98252213..98254652,2	K562	blood:
9	chr9:98249726..98252403-chr9:98255399..98257847,2	K562	blood:
10	chr9:98079431..98081822-chr9:98257356..98260228,2	K562	blood:
11	chr9:98248561..98250430-chr9:98258742..98261519,2	MCF-7	breast:
12	chr9:98253127..98255795-chr9:98271024..98273748,2	K562	blood:
13	chr9:98248481..98249380-chr9:98261714..98262530,2	MCF-7	breast:
14	chr9:98254778..98257186-chr9:98269292..98272061,2	MCF-7	breast:
15	chr9:98250278..98253038-chr9:98267122..98268940,3	MCF-7	breast:
16	chr9:98077937..98080697-chr9:98249120..98251504,2	MCF-7	breast:
17	chr9:98248718..98251495-chr9:98256463..98258895,3	MCF-7	breast:
18	chr9:98254155..98254770-chr9:98823287..98824045,2	MCF-7	breast:
19	chr9:98244918..98247577-chr9:98248993..98252345,5	K562	blood:
20	chr9:98251519..98254157-chr9:98254628..98258912,4	MCF-7	breast:
21	chr9:98239360..98245560-chr9:98246637..98251770,7	MCF-7	breast:
22	chr9:98253772..98257280-chr9:98266534..98270044,4	K562	blood:
23	chr9:98243853..98250190-chr9:98264163..98273969,14	MCF-7	breast:
24	chr9:98247877..98250406-chr9:98263082..98264686,2	K562	blood:
25	chr9:98247307..98248885-chr9:98260285..98262282,2	MCF-7	breast:
26	chr9:98258805..98260606-chr9:98267349..98269372,2	MCF-7	breast:
27	chr9:98245198..98247953-chr9:98249056..98251979,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C9orf102-12	chr9:98257206-98257661	ENSG00000271314.1

Variant related genes	Relation type
PTCH1	TF binding region
ENSG00000271314	TF binding region
PTCH1	CpG island
ENSG00000271314	CpG island
ENSG00000237857	chromatin interactions
ENSG00000158169	chromatin interactions
ENSG00000175611	chromatin interactions
ENSG00000182150	chromatin interactions
ENSG00000185920	chromatin interactions
ENSG00000271314	chromatin interactions
ENSG00000271155	chromatin interactions

Extended variants
information (count: 420 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:420 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2282040	chr9:98248328-98248329	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs554884150	chr9:98248337-98248338	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs531451740	chr9:98248386-98248387	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs2282041	chr9:98248387-98248388	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs543133901	chr9:98248420-98248421	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs3215874	chr9:98248431-98248432	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs370220047	chr9:98248432-98248433	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs558647484	chr9:98248450-98248451	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs576426823	chr9:98248607-98248608	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs182077563	chr9:98248621-98248622	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs559175162	chr9:98248627-98248628	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs529960355	chr9:98248634-98248635	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs2282042	chr9:98248635-98248636	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs56123016	chr9:98248656-98248657	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs543726625	chr9:98248714-98248715	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs138972069	chr9:98248746-98248747	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs112874940	chr9:98248762-98248763	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs368978760	chr9:98248769-98248770	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs78400819	chr9:98248780-98248781	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs187277487	chr9:98248796-98248797	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs374621950	chr9:98248821-98248822	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs571812615	chr9:98248852-98248853	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs115141736	chr9:98248865-98248866	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs547812072	chr9:98248919-98248920	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs142123834	chr9:98248940-98248941	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs530105594	chr9:98248941-98248942	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs555277050	chr9:98248947-98248948	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs570127281	chr9:98248975-98248976	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs537696479	chr9:98249016-98249017	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs558359499	chr9:98249036-98249037	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs560073401	chr9:98249037-98249038	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs192183743	chr9:98249086-98249087	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs376695268	chr9:98249092-98249093	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs540597385	chr9:98249108-98249109	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs552566646	chr9:98249146-98249147	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs574131517	chr9:98249189-98249190	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs541738357	chr9:98249199-98249200	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs547282252	chr9:98249229-98249230	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs565904064	chr9:98249262-98249263	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs563649477	chr9:98249263-98249264	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs183556626	chr9:98249272-98249273	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs146371589	chr9:98249455-98249456	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs188598519	chr9:98249468-98249469	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs532672674	chr9:98249497-98249498	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs547777420	chr9:98249500-98249501	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs138286882	chr9:98249549-98249550	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs73654564	chr9:98249569-98249570	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs530134508	chr9:98249597-98249598	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs548597703	chr9:98249598-98249599	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs116721849	chr9:98249616-98249617	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
overgrowth syndrome	16570072	CNVD
Effusion lymphoma	18079361	CNVD
Pancreatic cancer	17952125	CNVD
Neurodevelopmental disorder	22521361	CNVD
Basal cell carcinoma	21518781	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:588 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:98223400-98266400	Weak transcription	Hela-S3	cervix
2	chr9:98226000-98248400	Weak transcription	HUVEC	blood vessel
3	chr9:98226000-98251000	Weak transcription	Osteobl	bone
4	chr9:98226200-98254000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr9:98226600-98253800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr9:98227600-98248800	Weak transcription	Small Intestine	intestine
7	chr9:98232200-98261200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr9:98239400-98251400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr9:98239600-98253800	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr9:98239800-98260000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr9:98240200-98267400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr9:98240400-98256200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr9:98240800-98259800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr9:98241000-98258400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr9:98241200-98248800	Weak transcription	Colonic Mucosa	Colon
16	chr9:98242000-98251200	Weak transcription	K562	blood
17	chr9:98242000-98256400	Weak transcription	Esophagus	oesophagus
18	chr9:98242200-98256200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr9:98242400-98253400	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr9:98242400-98253600	Weak transcription	Spleen	Spleen
21	chr9:98242400-98256200	Weak transcription	NHLF	lung
22	chr9:98242400-98266400	Weak transcription	HSMMtube	muscle
23	chr9:98242600-98256200	Weak transcription	Placenta	Placenta
24	chr9:98242800-98253800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr9:98242800-98256600	Weak transcription	Fetal Kidney	kidney
26	chr9:98242800-98266600	Weak transcription	Adipose Nuclei	Adipose
27	chr9:98243000-98248800	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr9:98243000-98253800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr9:98243000-98253800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr9:98243000-98255800	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr9:98243000-98256200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr9:98243000-98256800	Weak transcription	Fetal Muscle Trunk	muscle
33	chr9:98243000-98267800	Weak transcription	Aorta	Aorta
34	chr9:98243200-98249000	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr9:98243400-98253600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr9:98243400-98256400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr9:98243600-98253400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr9:98243600-98256400	Weak transcription	HepG2	liver
39	chr9:98243800-98249800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr9:98243800-98260000	Weak transcription	HSMM	muscle
41	chr9:98244000-98255600	Weak transcription	GM12878-XiMat	blood
42	chr9:98244400-98248600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr9:98244400-98251000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr9:98244400-98256600	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr9:98244800-98251400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr9:98244800-98257000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr9:98245000-98248400	Strong transcription	Fetal Intestine Small	intestine
48	chr9:98245000-98256800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr9:98245200-98256600	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr9:98246000-98250000	Genic enhancers	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links